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Search Thermo Fisher Scientific
Entrez Gene ID: | 54903 |
Gene Name: | Meckel syndrome, type 1 |
Gene Aliases: |
BBS13, MES, MKS, POC12 |
Location: |
Chr.17:58205436-58219605 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MKS1 | NM_001165927.1 | 18 | 2276 | NP_001159399.1 |
NM_001321268.1 | 17 | 2189 | NP_001308197.1 | |
NM_001321269.1 | 17 | 2204 | NP_001308198.1 | |
NM_017777.3 | 18 | 2287 | NP_060247.2 | |
XM_005257485.3 | 17 | 2185 | XP_005257542.1 | |
XM_006721965.2 | 16 | 2038 | XP_006722028.1 | |
XM_011524957.2 | 17 | 2184 | XP_011523259.1 | |
XM_011524958.2 | 18 | 2267 | XP_011523260.1 | |
XM_011524959.2 | 16 | 2049 | XP_011523261.1 | |
XM_017024803.1 | 16 | 2018 | XP_016880292.1 | |
XM_017024805.1 | 18 | 2301 | XP_016880294.1 | |
AI208274.1 | 1 | 116 | ||
AK000352.1 | 15 | 1957 | BAA91105.1 | |
BC010061.2 | 16 | 1577 | AAH10061.1 | |
BE327525.1 | 1 | 122 | ||
DQ185029.1 | AAZ94714.1 | |||
KU178661.1 | ||||
KU178662.1 | ||||
KU178663.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv517229 | Chr.17:58176226 - 58373163 on Build GRCh38 | Gain+Loss | TSPOAP1 SUPT4H1 MKS1 TSPOAP1-AS1 LPO MPO RNF43 MIR4736 EPX MIR142 |
nsv457858 | Chr.17:58180623 - 58212973 on Build GRCh38 | Loss | MKS1 EPX |
Set Membership: |
Intragenic Exonic DGV Variation |